http://identifiers.org/exac.variant/17-48503763-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48503763
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48503763
    reference: chr 17
allele count: 115
allele frequency: 9.236947791164659e-3
allele num: 12450
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-28+13C>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.128+13C>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.128+13C>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.128+13C>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.128+13C>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.172+13C>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.128+13C>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.128+13C>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.128+13C>A
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 27376
  bin: 2.5e0
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22861
  bin: 7.5e0
  variant carriers: 159
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 1.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2220
  bin: 1.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 6.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 7
num of homozygotes: 2
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

17-48503778-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48503778
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48503778
    reference: chr 17
allele count: 1
allele frequency: 1.073652566029633e-4
allele num: 9314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.172+28G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.128+28G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.128+28G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.128+28G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-28+28G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.128+28G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.128+28G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.128+28G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.128+28G>A
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32043
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13797
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30769
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2203
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

17-48503779-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48503779
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48503779
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 9030
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.128+29G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.128+29G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.128+29G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.128+29G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.172+29G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.128+29G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-28+29G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.128+29G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.128+29G>T
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 18110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32240
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30872
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD

17-48503787-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48503787
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48503787
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 7222
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.128+37G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-28+37G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.128+37G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.128+37G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.128+37G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.128+37G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.172+37G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.128+37G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.128+37G>T
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16936
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30768
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3006
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

17-48503795-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48503795
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48503795
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 6130
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.128+45G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.172+45G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.128+45G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.128+45G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.128+45G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.128+45G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.128+45G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.128+45G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-28+45G>A
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16820
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29343
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3928
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

17-48504222-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48504222
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48504222
    reference: chr 17
allele count: 1
allele frequency: 9.359790340696369e-5
allele num: 10684
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.128+472A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.128+472A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-28+472A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.128+472A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.172+472A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.128+472A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.129-44A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.128+472A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.128+472A>G
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum

17-48504248-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48504248
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48504248
    reference: chr 17
allele count: 4
allele frequency: 3.727171077152441e-4
allele num: 10732
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.128+498A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.128+498A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.128+498A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.128+498A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.128+498A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-28+498A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.128+498A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.129-18A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.172+498A>G
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2789
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

17-48504254-TTCTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48504254
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48504250
    reference: chr 17
allele count: 7
allele frequency: 6.512839598064756e-4
allele num: 10748
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-28+507_-28+510delTGTC
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.129-9_129-6delTGTC
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.128+507_128+510delTGTC
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.128+507_128+510delTGTC
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.128+507_128+510delTGTC
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.128+507_128+510delTGTC
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.128+507_128+510delTGTC
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.128+507_128+510delTGTC
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.172+507_172+510delTGTC
  variant of: http://identifiers.org/hgnc/26101
canonical: false
consequence: splice region
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2779
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: c.129-9_129-6delTGTC
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: TTCTG
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

17-48504265-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48504265
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48504265
    reference: chr 17
allele count: 3
allele frequency: 2.788104089219331e-4
allele num: 10760
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.128+515G>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.128+515G>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.128+515G>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.128+515G>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-28+515G>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.129-1G>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.172+515G>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.128+515G>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.128+515G>C
  variant of: http://identifiers.org/hgnc/26101
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3531
  bin: 6.25e1
  variant carriers: 0
hgvs: c.129-1G>C
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

17-48504265-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48504265
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48504265
    reference: chr 17
allele count: 1
allele frequency: 9.293680297397769e-5
allele num: 10760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.128+515G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.128+515G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-28+515G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.172+515G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.129-1G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.128+515G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.128+515G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.128+515G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.128+515G>T
  variant of: http://identifiers.org/hgnc/26101
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
hgvs: c.129-1G>T
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

17-48504299-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48504299
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48504299
    reference: chr 17
allele count: 3
allele frequency: 2.790178571428571e-4
allele num: 10752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.128+549G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.128+549G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.128+549G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.162G>A
  hgvsp: ENST00000427954.2:c.162G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.172+549G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-28+549G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.128+549G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.128+549G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.128+549G>A
  variant of: http://identifiers.org/hgnc/26101
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3558
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg54Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

17-48504308-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48504308
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48504308
    reference: chr 17
allele count: 1
allele frequency: 9.298865538404315e-5
allele num: 10754
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.128+558T>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.128+558T>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-28+558T>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.128+558T>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.171T>C
  hgvsp: ENST00000427954.2:c.171T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.172+558T>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.128+558T>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.128+558T>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.128+558T>C
  variant of: http://identifiers.org/hgnc/26101
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val57Val
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

17-48504328-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48504328
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48504328
    reference: chr 17
allele count: 1
allele frequency: 9.323140033563304e-5
allele num: 10726
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-28+578C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.191C>T
  hgvsp: ENSP00000401831.2:p.Ser64Phe
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.128+578C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.172+578C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.128+578C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.128+578C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.128+578C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.128+578C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.128+578C>T
  variant of: http://identifiers.org/hgnc/26101
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser64Phe
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

17-48504329-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48504329
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48504329
    reference: chr 17
allele count: 9
allele frequency: 8.392390898918314e-4
allele num: 10724
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-28+579T>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.172+579T>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.128+579T>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.128+579T>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.192T>C
  hgvsp: ENST00000427954.2:c.192T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.128+579T>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.128+579T>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.128+579T>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.128+579T>C
  variant of: http://identifiers.org/hgnc/26101
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser64Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

17-48504360-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48504360
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48504360
    reference: chr 17
allele count: 3
allele frequency: 2.824326868762945e-4
allele num: 10622
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.203+20C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-28+610C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.128+610C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.172+610C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.128+610C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.128+610C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.128+610C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.128+610C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.128+610C>T
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS

17-48504370-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48504370
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48504370
    reference: chr 17
allele count: 1
allele frequency: 9.419743782969103e-5
allele num: 10616
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.203+30A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.128+620A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.128+620A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-28+620A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.128+620A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.128+620A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.128+620A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.128+620A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.172+620A>G
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2415
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

17-48504373-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48504373
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48504373
    reference: chr 17
allele count: 1
allele frequency: 9.446438692612885e-5
allele num: 10586
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.128+623C>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.128+623C>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-28+623C>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.128+623C>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.128+623C>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.172+623C>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.128+623C>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.128+623C>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.203+33C>G
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

17-48537533-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48537533
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48537532
    reference: chr 17
allele count: 1
allele frequency: 9.302325581395348e-5
allele num: 10750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.129-502delC
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.129-502delC
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.129-502delC
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.129-27delC
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.129-502delC
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.204-502delC
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-1458delC
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.173-502delC
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-1458delC
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: TC
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-48537541-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48537541
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48537541
    reference: chr 17
allele count: 1
allele frequency: 9.298865538404315e-5
allele num: 10754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.129-497C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-1453C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.129-22C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.173-497C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-1453C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.129-497C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.129-497C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.204-497C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.129-497C>T
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/17-48537607-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48537607
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48537607
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 10766
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.129-431A>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.129-431A>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.129-431A>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.173-431A>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-1387A>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*8A>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.129-431A>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.204-431A>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-1387A>C
  variant of: http://identifiers.org/hgnc/26101
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3604
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

17-48537638-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48537638
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48537638
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 10752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.129-400C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.173-400C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.129-400C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.129-400C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-1356C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.129-400C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*39C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-1356C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.204-400C>T
  variant of: http://identifiers.org/hgnc/26101
canonical: false
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5559
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4530
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

17-48537989-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48537989
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48537989
    reference: chr 17
allele count: 1
allele frequency: 1.794043774668102e-5
allele num: 55740
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.129-49C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.173-49C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-1005C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*126-49C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.204-49C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.129-49C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-1005C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.129-49C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.129-49C>T
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7401
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16411
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24856
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7000
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16557
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

17-48537993-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48537993
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48537993
    reference: chr 17
allele count: 1
allele frequency: 1.774433955568174e-5
allele num: 56356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.129-45G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.129-45G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.129-45G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*126-45G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-1001G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-1001G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.129-45G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.173-45G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.204-45G>A
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4652
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24890
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4218
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6992
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4881
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

17-48538006-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538006
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538006
    reference: chr 17
allele count: 1
allele frequency: 1.688390626055244e-5
allele num: 59228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.129-32G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.204-32G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-988G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-988G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.129-32G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.129-32G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.173-32G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*126-32G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.129-32G>A
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25782
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4853
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15759
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4214
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1997
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23730
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

17-48538016-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538016
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538016
    reference: chr 17
allele count: 1
allele frequency: 1.572772168223711e-5
allele num: 63582
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-978C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.129-22C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.129-22C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.173-22C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.204-22C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.129-22C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-978C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.129-22C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*126-22C>T
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13061
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2656
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5441
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

17-48538019-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538019
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538019
    reference: chr 17
allele count: 1
allele frequency: 1.507704369327262e-5
allele num: 66326
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.129-19A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.129-19A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.204-19A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-975A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-975A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.173-19A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*126-19A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.129-19A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.129-19A>G
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12007
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24848
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-48538021-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538021
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538021
    reference: chr 17
allele count: 1
allele frequency: 1.474969763119856e-5
allele num: 67798
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.129-17A>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.129-17A>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-973A>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.129-17A>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*126-17A>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.129-17A>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-973A>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.173-17A>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.204-17A>T
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-48538022-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538022
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538022
    reference: chr 17
allele count: 1
allele frequency: 1.461261945816407e-5
allele num: 68434
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.129-16G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.129-16G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-972G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*126-16G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.204-16G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-972G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.173-16G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.129-16G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.129-16G>T
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

17-48538023-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538023
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538023
    reference: chr 17
allele count: 1
allele frequency: 1.445880685925797e-5
allele num: 69162
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.129-15C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-971C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.129-15C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-971C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.129-15C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.129-15C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.204-15C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.173-15C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*126-15C>T
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10525
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23786
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

17-48538025-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538025
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538025
    reference: chr 17
allele count: 2
allele frequency: 2.809856978279806e-5
allele num: 71178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.129-13C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.129-13C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-969C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*126-13C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.2C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.129-13C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.173-13C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.204-13C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-969C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.129-13C>T
  variant of: http://identifiers.org/hgnc/26101
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23250
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ

17-48538026-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538026
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538026
    reference: chr 17
allele count: 1
allele frequency: 1.385540499348796e-5
allele num: 72174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*126-12C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.129-12C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-968C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.173-12C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.204-12C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.129-12C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.3C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.129-12C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-968C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.129-12C>T
  variant of: http://identifiers.org/hgnc/26101
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22762
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3402
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-48538027-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538027
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538026
    reference: chr 17
allele count: 2
allele frequency: 2.733360666940003e-5
allele num: 73170
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.173-10delC
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.129-10delC
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-966delC
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.129-10delC
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.129-10delC
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*126-10delC
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.5delC
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.204-10delC
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-966delC
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.129-10delC
  variant of: http://identifiers.org/hgnc/26101
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19666
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9026
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: TC
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-48538028-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538028
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538028
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 73902
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*126-10C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.129-10C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-966C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.173-10C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-966C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.129-10C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.129-10C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.5C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.204-10C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.129-10C>T
  variant of: http://identifiers.org/hgnc/26101
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22002
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

17-48538036-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538036
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538036
    reference: chr 17
allele count: 20
allele frequency: 2.429661305214053e-4
allele num: 82316
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-958A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.129-2A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*126-2A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.173-2A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.129-2A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.129-2A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.13A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-958A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.129-2A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.204-2A>G
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25644
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 18529
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 1.75e1
  variant carriers: 0
hgvs: c.129-2A>G
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-48538054-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538054
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538054
    reference: chr 17
allele count: 2
allele frequency: 2.071894747746814e-5
allele num: 96530
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-940C>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.31C>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.145C>A
  hgvsp: ENSP00000421884.1:p.Arg49Ser
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-940C>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.145C>A
  hgvsp: ENSP00000425964.1:p.Arg49Ser
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.220C>A
  hgvsp: ENSP00000401831.2:p.Arg74Ser
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*142C>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.189C>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.145C>A
  hgvsp: ENSP00000300441.4:p.Arg49Ser
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.145C>A
  hgvsp: ENSP00000424842.1:p.Arg49Ser
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11907
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3695
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg49Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-48538054-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538054
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538054
    reference: chr 17
allele count: 2
allele frequency: 2.071894747746814e-5
allele num: 96530
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.145C>T
  hgvsp: ENSP00000421884.1:p.Arg49Cys
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*142C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.189C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.220C>T
  hgvsp: ENSP00000401831.2:p.Arg74Cys
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.31C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.145C>T
  hgvsp: ENSP00000425964.1:p.Arg49Cys
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-940C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-940C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.145C>T
  hgvsp: ENSP00000424842.1:p.Arg49Cys
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.145C>T
  hgvsp: ENSP00000300441.4:p.Arg49Cys
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11907
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5773
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3695
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35482
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg49Cys
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

17-48538055-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538055
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538055
    reference: chr 17
allele count: 3
allele frequency: 3.076923076923077e-5
allele num: 97500
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.221G>A
  hgvsp: ENSP00000401831.2:p.Arg74His
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.146G>A
  hgvsp: ENSP00000421884.1:p.Arg49His
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-939G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.32G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.146G>A
  hgvsp: ENSP00000424842.1:p.Arg49His
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-939G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*143G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.146G>A
  hgvsp: ENSP00000300441.4:p.Arg49His
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.190G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.146G>A
  hgvsp: ENSP00000425964.1:p.Arg49His
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6000
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg49His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

17-48538067-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538067
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538067
    reference: chr 17
allele count: 17
allele frequency: 1.647382599763552e-4
allele num: 103194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.233C>T
  hgvsp: ENSP00000401831.2:p.Thr78Met
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.44C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*155C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.202C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.158C>T
  hgvsp: ENSP00000424842.1:p.Thr53Met
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.158C>T
  hgvsp: ENSP00000425964.1:p.Thr53Met
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.158C>T
  hgvsp: ENSP00000421884.1:p.Thr53Met
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.158C>T
  hgvsp: ENSP00000300441.4:p.Thr53Met
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-927C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-927C>T
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36727
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8731
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr53Met
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

17-48538070-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538070
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538070
    reference: chr 17
allele count: 1
allele frequency: 9.56553346980161e-6
allele num: 104542
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.47C>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-924C>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.161C>G
  hgvsp: ENSP00000424842.1:p.Pro54Arg
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*158C>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.161C>G
  hgvsp: ENSP00000421884.1:p.Pro54Arg
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.161C>G
  hgvsp: ENSP00000300441.4:p.Pro54Arg
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.205C>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.161C>G
  hgvsp: ENSP00000425964.1:p.Pro54Arg
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.236C>G
  hgvsp: ENSP00000401831.2:p.Pro79Arg
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-924C>G
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro54Arg
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

17-48538074-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538074
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538074
    reference: chr 17
allele count: 7
allele frequency: 6.624898260491e-5
allele num: 105662
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.165C>T
  hgvsp: ENST00000502667.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.240C>T
  hgvsp: ENST00000427954.2:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-920C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.51C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*162C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.209C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.165C>T
  hgvsp: ENST00000506582.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.165C>T
  hgvsp: ENST00000504392.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.165C>T
  hgvsp: ENST00000300441.4:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-920C>T
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37561
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7576
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile55Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ

17-48538075-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538075
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538075
    reference: chr 17
allele count: 4
allele frequency: 3.778432706113504e-5
allele num: 105864
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.166G>A
  hgvsp: ENSP00000300441.4:p.Gly56Arg
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.52G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-919G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.166G>A
  hgvsp: ENSP00000421884.1:p.Gly56Arg
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-919G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.210G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*163G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.241G>A
  hgvsp: ENSP00000401831.2:p.Gly81Arg
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.166G>A
  hgvsp: ENSP00000425964.1:p.Gly56Arg
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.166G>A
  hgvsp: ENSP00000424842.1:p.Gly56Arg
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7673
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37568
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8219
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly56Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum

17-48538076-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538076
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538076
    reference: chr 17
allele count: 3
allele frequency: 2.822466836014677e-5
allele num: 106290
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.211G>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-918G>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.167G>C
  hgvsp: ENSP00000425964.1:p.Gly56Ala
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.167G>C
  hgvsp: ENSP00000421884.1:p.Gly56Ala
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.167G>C
  hgvsp: ENSP00000424842.1:p.Gly56Ala
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.242G>C
  hgvsp: ENSP00000401831.2:p.Gly81Ala
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-918G>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*164G>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.53G>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.167G>C
  hgvsp: ENSP00000300441.4:p.Gly56Ala
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7746
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8096
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly56Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

17-48538079-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538079
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538079
    reference: chr 17
allele count: 1
allele frequency: 9.360666479453337e-6
allele num: 106830
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.170G>A
  hgvsp: ENSP00000424842.1:p.Gly57Asp
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-915G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.245G>A
  hgvsp: ENSP00000401831.2:p.Gly82Asp
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.170G>A
  hgvsp: ENSP00000421884.1:p.Gly57Asp
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.56G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.170G>A
  hgvsp: ENSP00000425964.1:p.Gly57Asp
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.214G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.170G>A
  hgvsp: ENSP00000300441.4:p.Gly57Asp
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*167G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-915G>A
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7069
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7878
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly57Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum

17-48538083-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538083
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538083
    reference: chr 17
allele count: 1
allele frequency: 9.336370765955857e-6
allele num: 107108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-911C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.174C>T
  hgvsp: ENST00000506582.1:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.174C>T
  hgvsp: ENST00000504392.1:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-911C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.249C>T
  hgvsp: ENST00000427954.2:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.174C>T
  hgvsp: ENST00000300441.4:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.60C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*171C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.174C>T
  hgvsp: ENST00000502667.1:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.218C>T
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6915
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu58Leu
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum

17-48538088-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538088
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538088
    reference: chr 17
allele count: 1
allele frequency: 9.275921562807265e-6
allele num: 107806
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.254A>G
  hgvsp: ENSP00000401831.2:p.Tyr85Cys
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.179A>G
  hgvsp: ENSP00000425964.1:p.Tyr60Cys
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.65A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*176A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.223A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-906A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-906A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.179A>G
  hgvsp: ENSP00000421884.1:p.Tyr60Cys
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.179A>G
  hgvsp: ENSP00000424842.1:p.Tyr60Cys
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.179A>G
  hgvsp: ENSP00000300441.4:p.Tyr60Cys
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Tyr60Cys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ

17-48538089-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538089
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538089
    reference: chr 17
allele count: 6
allele frequency: 5.565965973394682e-5
allele num: 107798
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.180C>T
  hgvsp: ENST00000502667.1:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*177C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-905C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.66C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.180C>T
  hgvsp: ENST00000504392.1:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-905C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.180C>T
  hgvsp: ENST00000300441.4:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.224C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.255C>T
  hgvsp: ENST00000427954.2:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.180C>T
  hgvsp: ENST00000506582.1:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37283
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8417
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7555
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr60Tyr
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

17-48538090-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538090
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538090
    reference: chr 17
allele count: 2
allele frequency: 1.85349940688019e-5
allele num: 107904
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.256G>A
  hgvsp: ENSP00000401831.2:p.Val86Ile
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.181G>A
  hgvsp: ENSP00000300441.4:p.Val61Ile
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.181G>A
  hgvsp: ENSP00000425964.1:p.Val61Ile
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-904G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.181G>A
  hgvsp: ENSP00000424842.1:p.Val61Ile
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*178G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.181G>A
  hgvsp: ENSP00000421884.1:p.Val61Ile
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-904G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.67G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.225G>A
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8452
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val61Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum

17-48538094-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538094
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538093
    reference: chr 17
allele count: 1
allele frequency: 9.237192632415156e-6
allele num: 108258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.75delG
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.233delG
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.189delG
  hgvsp: ENSP00000421884.1:p.Cys64AlafsTer37
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.189delG
  hgvsp: ENSP00000425964.1:p.Cys64AlafsTer37
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.189delG
  hgvsp: ENSP00000424842.1:p.Cys64AlafsTer37
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-896delG
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*186delG
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.264delG
  hgvsp: ENSP00000401831.2:p.Cys89AlafsTer37
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.189delG
  hgvsp: ENSP00000300441.4:p.Cys64AlafsTer37
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-896delG
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37222
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7441
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Cys64AlafsTer37
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: AG
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

17-48538096-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538096
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538096
    reference: chr 17
allele count: 1
allele frequency: 9.226283837395974e-6
allele num: 108386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-898G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.187G>A
  hgvsp: ENSP00000424842.1:p.Gly63Arg
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.73G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*184G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-898G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.187G>A
  hgvsp: ENSP00000421884.1:p.Gly63Arg
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.231G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.187G>A
  hgvsp: ENSP00000425964.1:p.Gly63Arg
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.187G>A
  hgvsp: ENSP00000300441.4:p.Gly63Arg
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.262G>A
  hgvsp: ENSP00000401831.2:p.Gly88Arg
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly63Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

17-48538098-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538098
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538098
    reference: chr 17
allele count: 15
allele frequency: 1.382641398126982e-4
allele num: 108488
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-896G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.189G>A
  hgvsp: ENST00000502667.1:c.189G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.189G>A
  hgvsp: ENST00000300441.4:c.189G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.75G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.189G>A
  hgvsp: ENST00000504392.1:c.189G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.264G>A
  hgvsp: ENST00000427954.2:c.264G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.233G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.189G>A
  hgvsp: ENST00000506582.1:c.189G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-896G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*186G>A
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8709
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36904
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2876
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly63Gly
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

17-48538102-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538102
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538102
    reference: chr 17
allele count: 1
allele frequency: 9.218629005494302e-6
allele num: 108476
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.237A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.268A>G
  hgvsp: ENSP00000401831.2:p.Thr90Ala
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.79A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.193A>G
  hgvsp: ENSP00000425964.1:p.Thr65Ala
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.193A>G
  hgvsp: ENSP00000424842.1:p.Thr65Ala
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.193A>G
  hgvsp: ENSP00000300441.4:p.Thr65Ala
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.193A>G
  hgvsp: ENSP00000421884.1:p.Thr65Ala
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*190A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-892A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-892A>G
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8939
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr65Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

17-48538103-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538103
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538103
    reference: chr 17
allele count: 1
allele frequency: 9.213193292795283e-6
allele num: 108540
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.269C>T
  hgvsp: ENSP00000401831.2:p.Thr90Ile
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-891C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.194C>T
  hgvsp: ENSP00000421884.1:p.Thr65Ile
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.238C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.194C>T
  hgvsp: ENSP00000424842.1:p.Thr65Ile
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.194C>T
  hgvsp: ENSP00000425964.1:p.Thr65Ile
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-891C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.194C>T
  hgvsp: ENSP00000300441.4:p.Thr65Ile
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.80C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*191C>T
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr65Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS

http://identifiers.org/exac.variant/17-48538117-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538117
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538117
    reference: chr 17
allele count: 8
allele frequency: 7.390300230946882e-5
allele num: 108250
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*205A>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-877A>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-877A>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.283A>C
  hgvsp: ENSP00000401831.2:p.Asn95His
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.208A>C
  hgvsp: ENSP00000424842.1:p.Asn70His
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.94A>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.208A>C
  hgvsp: ENSP00000425964.1:p.Asn70His
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.208A>C
  hgvsp: ENSP00000421884.1:p.Asn70His
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.208A>C
  hgvsp: ENSP00000300441.4:p.Asn70His
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.252A>C
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34889
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8962
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn70His
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

17-48538117-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538117
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538117
    reference: chr 17
allele count: 39
allele frequency: 3.602771362586605e-4
allele num: 108250
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.208A>G
  hgvsp: ENSP00000421884.1:p.Asn70Asp
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.208A>G
  hgvsp: ENSP00000425964.1:p.Asn70Asp
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.252A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-877A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.283A>G
  hgvsp: ENSP00000401831.2:p.Asn95Asp
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.208A>G
  hgvsp: ENSP00000300441.4:p.Asn70Asp
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-877A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.94A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.208A>G
  hgvsp: ENSP00000424842.1:p.Asn70Asp
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*205A>G
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34889
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8962
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn70Asp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

17-48538120-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538120
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538120
    reference: chr 17
allele count: 1
allele frequency: 9.253090532237768e-6
allele num: 108072
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.97A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.255A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-874A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*208A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.211A>G
  hgvsp: ENSP00000421884.1:p.Ser71Gly
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.211A>G
  hgvsp: ENSP00000424842.1:p.Ser71Gly
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.211A>G
  hgvsp: ENSP00000425964.1:p.Ser71Gly
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-874A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.211A>G
  hgvsp: ENSP00000300441.4:p.Ser71Gly
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.286A>G
  hgvsp: ENSP00000401831.2:p.Ser96Gly
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34484
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2697
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser71Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD

17-48538121-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538121
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538121
    reference: chr 17
allele count: 1
allele frequency: 9.280053453107891e-6
allele num: 107758
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.287G>T
  hgvsp: ENSP00000401831.2:p.Ser96Ile
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.212G>T
  hgvsp: ENSP00000421884.1:p.Ser71Ile
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-873G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*209G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.212G>T
  hgvsp: ENSP00000424842.1:p.Ser71Ile
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.98G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.212G>T
  hgvsp: ENSP00000425964.1:p.Ser71Ile
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.212G>T
  hgvsp: ENSP00000300441.4:p.Ser71Ile
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-873G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.256G>T
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6562
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8901
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser71Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

17-48538124-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538124
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538124
    reference: chr 17
allele count: 1
allele frequency: 9.279881217520416e-6
allele num: 107760
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-870A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*212A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.215A>G
  hgvsp: ENSP00000421884.1:p.Lys72Arg
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.101A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.215A>G
  hgvsp: ENSP00000425964.1:p.Lys72Arg
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.290A>G
  hgvsp: ENSP00000401831.2:p.Lys97Arg
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.215A>G
  hgvsp: ENSP00000424842.1:p.Lys72Arg
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-870A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.215A>G
  hgvsp: ENSP00000300441.4:p.Lys72Arg
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.259A>G
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6636
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys72Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

17-48538132-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538132
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538132
    reference: chr 17
allele count: 1
allele frequency: 9.350163627863488e-6
allele num: 106950
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.109G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*220G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.298G>T
  hgvsp: ENSP00000401831.2:p.Gly100Cys
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.223G>T
  hgvsp: ENSP00000425964.1:p.Gly75Cys
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.223G>T
  hgvsp: ENSP00000424842.1:p.Gly75Cys
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.223G>T
  hgvsp: ENSP00000421884.1:p.Gly75Cys
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-862G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.267G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-862G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.223G>T
  hgvsp: ENSP00000300441.4:p.Gly75Cys
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36868
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly75Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

17-48538136-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538136
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538136
    reference: chr 17
allele count: 1
allele frequency: 9.408399819358724e-6
allele num: 106288
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.113A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.227A>G
  hgvsp: ENSP00000424842.1:p.Gln76Arg
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-858A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.227A>G
  hgvsp: ENSP00000425964.1:p.Gln76Arg
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*224A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.271A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.227A>G
  hgvsp: ENSP00000300441.4:p.Gln76Arg
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.302A>G
  hgvsp: ENSP00000401831.2:p.Gln101Arg
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-858A>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.227A>G
  hgvsp: ENSP00000421884.1:p.Gln76Arg
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln76Arg
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-48538137-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538137
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538137
    reference: chr 17
allele count: 1
allele frequency: 9.409993413004611e-6
allele num: 106270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.228G>A
  hgvsp: ENST00000502667.1:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*225G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.228G>A
  hgvsp: ENST00000504392.1:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.303G>A
  hgvsp: ENST00000427954.2:c.303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.272G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-857G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.228G>A
  hgvsp: ENST00000300441.4:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-857G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.228G>A
  hgvsp: ENST00000506582.1:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.114G>A
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln76Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

17-48538139-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538139
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538139
    reference: chr 17
allele count: 1
allele frequency: 9.430047904643356e-6
allele num: 106044
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.230G>C
  hgvsp: ENSP00000300441.4:p.Cys77Ser
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.230G>C
  hgvsp: ENSP00000421884.1:p.Cys77Ser
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-855G>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.230G>C
  hgvsp: ENSP00000425964.1:p.Cys77Ser
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.116G>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*227G>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.274G>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.230G>C
  hgvsp: ENSP00000424842.1:p.Cys77Ser
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-855G>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.305G>C
  hgvsp: ENSP00000401831.2:p.Cys102Ser
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Cys77Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD

17-48538141-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538141
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538141
    reference: chr 17
allele count: 1
allele frequency: 9.465215333648841e-6
allele num: 105650
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.232C>T
  hgvsp: ENST00000504392.1:c.232C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.232C>T
  hgvsp: ENST00000300441.4:c.232C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*229C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.232C>T
  hgvsp: ENST00000506582.1:c.232C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.232C>T
  hgvsp: ENST00000502667.1:c.232C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.276C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-853C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-853C>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.307C>T
  hgvsp: ENST00000427954.2:c.307C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.118C>T
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8490
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu78Leu
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

17-48538143-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538143
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538143
    reference: chr 17
allele count: 1
allele frequency: 9.492529379378429e-6
allele num: 105346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.309G>A
  hgvsp: ENST00000427954.2:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.234G>A
  hgvsp: ENST00000506582.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.120G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.234G>A
  hgvsp: ENST00000504392.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.234G>A
  hgvsp: ENST00000502667.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*231G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-851G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.278G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.234G>A
  hgvsp: ENST00000300441.4:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-851G>A
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30925
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5444
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu78Leu
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

17-48538162-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538162
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538162
    reference: chr 17
allele count: 4
allele frequency: 3.900840631156014e-5
allele num: 102542
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-832G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*250G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.253G>A
  hgvsp: ENSP00000424842.1:p.Val85Ile
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.253G>A
  hgvsp: ENSP00000421884.1:p.Val85Ile
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-832G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.139G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.253G>A
  hgvsp: ENSP00000300441.4:p.Val85Ile
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.253G>A
  hgvsp: ENSP00000425964.1:p.Val85Ile
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.328G>A
  hgvsp: ENSP00000401831.2:p.Val110Ile
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.297G>A
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7940
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9005
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28494
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4260
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6775
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val85Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

17-48538165-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538165
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538165
    reference: chr 17
allele count: 1
allele frequency: 9.787225712999394e-6
allele num: 102174
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.256C>G
  hgvsp: ENSP00000300441.4:p.Pro86Ala
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.256C>G
  hgvsp: ENSP00000421884.1:p.Pro86Ala
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.256C>G
  hgvsp: ENSP00000424842.1:p.Pro86Ala
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.331C>G
  hgvsp: ENSP00000401831.2:p.Pro111Ala
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*253C>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-829C>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.142C>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-829C>G
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.256C>G
  hgvsp: ENSP00000425964.1:p.Pro86Ala
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.300C>G
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6890
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro86Ala
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/17-48538166-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538166
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538166
    reference: chr 17
allele count: 2
allele frequency: 1.960668980256063e-5
allele num: 102006
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.332C>A
  hgvsp: ENSP00000401831.2:p.Pro111Gln
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.257C>A
  hgvsp: ENSP00000300441.4:p.Pro86Gln
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.257C>A
  hgvsp: ENSP00000421884.1:p.Pro86Gln
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.257C>A
  hgvsp: ENSP00000425964.1:p.Pro86Gln
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.301C>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*254C>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-828C>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.257C>A
  hgvsp: ENSP00000424842.1:p.Pro86Gln
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-828C>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.143C>A
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6926
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro86Gln
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

17-48538172-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538172
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538172
    reference: chr 17
allele count: 6
allele frequency: 5.953207786795785e-5
allele num: 100786
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.263G>A
  hgvsp: ENSP00000424842.1:p.Arg88Gln
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*260G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-822G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-822G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.263G>A
  hgvsp: ENSP00000425964.1:p.Arg88Gln
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.149G>A
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.263G>A
  hgvsp: ENSP00000421884.1:p.Arg88Gln
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.263G>A
  hgvsp: ENSP00000300441.4:p.Arg88Gln
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.338G>A
  hgvsp: ENSP00000401831.2:p.Arg113Gln
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.307G>A
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27599
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3980
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7463
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9799
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1755
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg88Gln
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

17-48538181-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538181
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538181
    reference: chr 17
allele count: 1
allele frequency: 1.006481742421193e-5
allele num: 99356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.158T>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.272T>C
  hgvsp: ENSP00000421884.1:p.Leu91Ser
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-813T>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.347T>C
  hgvsp: ENSP00000401831.2:p.Leu116Ser
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-813T>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.272T>C
  hgvsp: ENSP00000424842.1:p.Leu91Ser
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.272T>C
  hgvsp: ENSP00000300441.4:p.Leu91Ser
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.316T>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*269T>C
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.272T>C
  hgvsp: ENSP00000425964.1:p.Leu91Ser
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8030
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15250
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu91Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

17-48538182-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48538182
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48538182
    reference: chr 17
allele count: 2
allele frequency: 2.020446922859336e-5
allele num: 98988
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000424842
  ensembl transcript: ENST00000506582
  gene symbol: ACSF2
  hgvsc: ENST00000506582.1:c.273G>T
  hgvsp: ENSP00000424842.1:p.Leu91Phe
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425332
  ensembl transcript: ENST00000510410
  gene symbol: ACSF2
  hgvsc: ENST00000510410.1:c.129-812G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000437987
  ensembl transcript: ENST00000541920
  gene symbol: ACSF2
  hgvsc: ENST00000541920.1:c.-27-812G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000421884
  ensembl transcript: ENST00000502667
  gene symbol: ACSF2
  hgvsc: ENST00000502667.1:c.273G>T
  hgvsp: ENSP00000421884.1:p.Leu91Phe
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000570356
  gene symbol: ACSF2
  hgvsc: ENST00000570356.1:n.159G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000300441
  ensembl transcript: ENST00000300441
  gene symbol: ACSF2
  hgvsc: ENST00000300441.4:c.273G>T
  hgvsp: ENSP00000300441.4:p.Leu91Phe
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167107
  ensembl transcript: ENST00000504945
  gene symbol: ACSF2
  hgvsc: ENST00000504945.1:n.317G>T
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000425964
  ensembl transcript: ENST00000504392
  gene symbol: ACSF2
  hgvsc: ENST00000504392.1:c.273G>T
  hgvsp: ENSP00000425964.1:p.Leu91Phe
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000401831
  ensembl transcript: ENST00000427954
  gene symbol: ACSF2
  hgvsc: ENST00000427954.2:c.348G>T
  hgvsp: ENSP00000401831.2:p.Leu116Phe
  variant of: http://identifiers.org/hgnc/26101
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167107
  ensembl protein: ENSP00000426730
  ensembl transcript: ENST00000503408
  gene symbol: ACSF2
  hgvsc: ENST00000503408.1:c.*270G>T
  variant of: http://identifiers.org/hgnc/26101
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10596
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8099
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu91Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

GenotypeQuality
all individuals: 20783
bin: 2.25e1
variant carriers: 22

GenotypeQuality
all individuals: 464
bin: 3.25e1
variant carriers: 9

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 11

GenotypeQuality
all individuals: 26606
bin: 7.5e0
variant carriers: 4

GenotypeQuality
all individuals: 172
bin: 6.75e1
variant carriers: 16

GenotypeQuality
all individuals: 789
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 7

GenotypeQuality
all individuals: 48
bin: 9.25e1
variant carriers: 15

GenotypeQuality
all individuals: 211
bin: 9.75e1
variant carriers: 96

GenotypeQuality
all individuals: 49
bin: 8.25e1
variant carriers: 8

GenotypeQuality
all individuals: 1809
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 38
bin: 8.75e1
variant carriers: 19

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 14

GenotypeQuality
all individuals: 66
bin: 7.25e1
variant carriers: 11

GenotypeQuality
all individuals: 2236
bin: 1.25e1
variant carriers: 3

European (Finnish)
type: Population
allele count: 4
allele frequency: 1.96078431372549e-2
allele num: 204
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 100
allele frequency: 1.300728407908429e-2
allele num: 7688
num of homozygotes: 2

Latino
type: Population
allele count: 4
allele frequency: 4.68384074941452e-3
allele num: 854
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1212
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.439024390243903e-2
allele num: 82
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 5.966587112171838e-3
allele num: 838
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.14e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.7e-1

FS
type: SiteQuality
SIO_000300: 3.613e0

DP
type: SiteQuality
SIO_000300: 3.39967e5

QD
type: SiteQuality
SIO_000300: 1.109e1

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 130
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 7.849293563579278e-4
allele num: 1274
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 914
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 646
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.90642e5

MQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.24e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

QD
type: SiteQuality
SIO_000300: 1.441e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

VQSLOD
type: SiteQuality
SIO_000300: -2.126e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

GenotypeQuality
all individuals: 13294
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2635
bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1224
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5528
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.986e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.29e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 4.984e1

DP
type: SiteQuality
SIO_000300: 2.87745e5

VQSLOD
type: SiteQuality
SIO_000300: -1.41e-2

GenotypeQuality
all individuals: 396
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 567
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4372
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1064
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 86
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.77e-2

FS
type: SiteQuality
SIO_000300: 2.199e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 5.72e0

DP
type: SiteQuality
SIO_000300: 2.63604e5

GenotypeQuality
all individuals: 41
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5968
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variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
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GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 516
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variant carriers: 0

GenotypeQuality
all individuals: 169
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variant carriers: 0

GenotypeQuality
all individuals: 61
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variant carriers: 0

GenotypeQuality
all individuals: 32
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GenotypeQuality
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GenotypeQuality
all individuals: 5654
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GenotypeQuality
all individuals: 31
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GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 113
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variant carriers: 0

GenotypeQuality
all individuals: 6370
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 74
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3690
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 968
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 336
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.28e-1

DP
type: SiteQuality
SIO_000300: 2.5094e5

MQ
type: SiteQuality
SIO_000300: 5.662e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.140000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.198e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

GenotypeQuality
all individuals: 95
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2756
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variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 2.5e0
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GenotypeQuality
all individuals: 88
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variant carriers: 0

GenotypeQuality
all individuals: 149
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variant carriers: 0

GenotypeQuality
all individuals: 90
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GenotypeQuality
all individuals: 189
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GenotypeQuality
all individuals: 312
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GenotypeQuality
all individuals: 122
bin: 4.25e1
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GenotypeQuality
all individuals: 66
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GenotypeQuality
all individuals: 797
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GenotypeQuality
all individuals: 275
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GenotypeQuality
all individuals: 2528
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variant carriers: 0

GenotypeQuality
all individuals: 165
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variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 7.462686567164179e-3
allele num: 134
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2706
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.77e0

DP
type: SiteQuality
SIO_000300: 1.42339e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.05e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.131e0

QD
type: SiteQuality
SIO_000300: 1.305e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.08e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

GenotypeQuality
all individuals: 75
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 189
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 13
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 24
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GenotypeQuality
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GenotypeQuality
all individuals: 37
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GenotypeQuality
all individuals: 320
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GenotypeQuality
all individuals: 26
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variant carriers: 1

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 8.25e1
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GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.687315634218289e-4
allele num: 2712
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 1.530612244897959e-2
allele num: 196
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.112e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.57e-2

QD
type: SiteQuality
SIO_000300: 1.187e1

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-2

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

DP
type: SiteQuality
SIO_000300: 1.4953e5

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 2.577319587628866e-3
allele num: 2716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 194
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 4.44e-1

QD
type: SiteQuality
SIO_000300: 1.218e1

MQRankSum
type: SiteQuality
SIO_000300: -4.61e-1

DP
type: SiteQuality
SIO_000300: 1.49853e5

VQSLOD
type: SiteQuality
SIO_000300: 5.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.44e-2

MQ
type: SiteQuality
SIO_000300: 5.75e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.38e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 74
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variant carriers: 3

GenotypeQuality
all individuals: 65
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 8.620689655172414e-3
allele num: 116
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 7.347538574577516e-4
allele num: 2722
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7498
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.25e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.33e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

DP
type: SiteQuality
SIO_000300: 1.49965e5

FS
type: SiteQuality
SIO_000300: 5.27e-1

QD
type: SiteQuality
SIO_000300: 1.503e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.8e0

VQSLOD
type: SiteQuality
SIO_000300: 3.14e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.333688983728994e-4
allele num: 7498
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2722
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 92
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European (Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -2.8e0

FS
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MQRankSum
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SIO_000300: -2.9e-2

DP
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MQ
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SIO_000300: 5.955e1

QD
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SIO_000300: 1.503e1

InbreedingCoeff
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SIO_000300: 9.25e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.33e-1

VQSLOD
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ReadPosRankSum
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SIO_000300: 5.2e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2716
num of homozygotes: 0

South Asian
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allele frequency: 3.998933617701946e-4
allele num: 7502
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 192
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.22e-1

MQ
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SIO_000300: 5.888e1

BaseQRankSum
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InbreedingCoeff
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SIO_000300: -3.93e-2

QD
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VQSLOD
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ClippingRankSum
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SIO_000300: -2.46e-1

FS
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e-1

DP
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SIO_000300: 1.49404e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 1
allele frequency: 5.208333333333333e-3
allele num: 192
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 92
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2718
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 7502
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.936e0

MQRankSum
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SIO_000300: -7.86e-1

InbreedingCoeff
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MQ
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SIO_000300: 5.948e1

BaseQRankSum
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DP
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SIO_000300: 1.48998e5

ClippingRankSum
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VQSLOD
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ReadPosRankSum
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SIO_000300: -3.91e-1

QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele count: 1
allele frequency: 8.474576271186441e-3
allele num: 118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2704
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

InbreedingCoeff
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SIO_000300: -3.85e-2

BaseQRankSum
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VQSLOD
type: SiteQuality
SIO_000300: 4.95e0

FS
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SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.48384e5

MQ
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SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.29e-1

QD
type: SiteQuality
SIO_000300: 1.286e1

ReadPosRankSum
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SIO_000300: 2.07e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 1.202244189153086e-3
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Other
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.48526e5

BaseQRankSum
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SIO_000300: -2.022e0

ClippingRankSum
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SIO_000300: 6.97e-1

VQSLOD
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ReadPosRankSum
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MQRankSum
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FS
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InbreedingCoeff
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QD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 1.5625e-2
allele num: 192
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2652
num of homozygotes: 0

European (Finnish)
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
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Other
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num of homozygotes: 0

Latino
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DP
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VQSLOD
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MQ
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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ReadPosRankSum
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MQRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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num of homozygotes: 0

European (Non-Finnish)
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East Asian
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South Asian
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African
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VQSLOD
type: SiteQuality
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MQ
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QD
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InbreedingCoeff
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BaseQRankSum
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FS
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ReadPosRankSum
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MQRankSum
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

African
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European (Non-Finnish)
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Latino
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Other
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South Asian
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East Asian
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European (Finnish)
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ClippingRankSum
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FS
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ReadPosRankSum
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DP
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MQRankSum
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QD
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MQ
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 7504
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European (Non-Finnish)
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Latino
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African
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East Asian
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Other
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European (Finnish)
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MQRankSum
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BaseQRankSum
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MQ
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FS
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DP
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VQSLOD
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InbreedingCoeff
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QD
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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allele frequency: 5.263157894736842e-3
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European (Finnish)
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allele num: 0
num of homozygotes: 0

South Asian
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East Asian
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Other
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VQSLOD
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FS
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InbreedingCoeff
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MQ
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Other
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East Asian
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South Asian
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African
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European (Finnish)
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Latino
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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QD
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ReadPosRankSum
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MQ
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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Latino
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South Asian
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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MQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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DP
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QD
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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South Asian
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European (Finnish)
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European (Non-Finnish)
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allele num: 28918
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African
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East Asian
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BaseQRankSum
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QD
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InbreedingCoeff
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VQSLOD
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DP
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MQ
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ReadPosRankSum
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MQRankSum
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FS
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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African
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South Asian
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European (Non-Finnish)
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East Asian
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Other
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ReadPosRankSum
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MQ
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InbreedingCoeff
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QD
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VQSLOD
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MQRankSum
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DP
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BaseQRankSum
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FS
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Other
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African
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East Asian
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Latino
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European (Finnish)
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ReadPosRankSum
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FS
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ClippingRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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Other
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African
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European (Finnish)
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Latino
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European (Non-Finnish)
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VQSLOD
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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MQ
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FS
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ClippingRankSum
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InbreedingCoeff
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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East Asian
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Latino
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African
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VQSLOD
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DP
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FS
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BaseQRankSum
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QD
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MQ
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.701202949165696e-5
allele num: 10308
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2882
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7262
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6266
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.62e0

VQSLOD
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DP
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MQRankSum
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MQ
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SIO_000300: 5.803e1

FS
type: SiteQuality
SIO_000300: 2.051e0

ReadPosRankSum
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.926e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7344
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2898
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 35424
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

FS
type: SiteQuality
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MQRankSum
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SIO_000300: -5.03e-1

VQSLOD
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DP
type: SiteQuality
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MQ
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ReadPosRankSum
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SIO_000300: 1.56e0

QD
type: SiteQuality
SIO_000300: 7.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.39e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10460
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2920
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.789711543826369e-5
allele num: 35846
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.31e-1

FS
type: SiteQuality
SIO_000300: 5.047e0

QD
type: SiteQuality
SIO_000300: 1.042e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.7e0

DP
type: SiteQuality
SIO_000300: 9.29108e5

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -5.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.53e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 2.597402597402597e-4
allele num: 7700
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36814
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5802
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10848
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.15e-1

DP
type: SiteQuality
SIO_000300: 9.53617e5

QD
type: SiteQuality
SIO_000300: 1.326e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

FS
type: SiteQuality
SIO_000300: 2.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10970
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.676229727559814e-5
allele num: 37366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3086
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7804
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

DP
type: SiteQuality
SIO_000300: 9.64667e5

MQRankSum
type: SiteQuality
SIO_000300: -1.037e0

QD
type: SiteQuality
SIO_000300: 1.012e1

VQSLOD
type: SiteQuality
SIO_000300: 9.9e-2

FS
type: SiteQuality
SIO_000300: 1.996e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
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allele frequency: 1.798884691491275e-4
allele num: 11118
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6020
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 37856
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.04e-1

QD
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MQRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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DP
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FS
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11226
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 38218
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 6084
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3192
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 538
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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ClippingRankSum
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MQ
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BaseQRankSum
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DP
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FS
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VQSLOD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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allele num: 7266
num of homozygotes: 0

South Asian
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 19
allele frequency: 4.449648711943794e-4
allele num: 42700
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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DP
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MQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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BaseQRankSum
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7940
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9894
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.427959445951735e-4
allele num: 14006
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.633e0

QD
type: SiteQuality
SIO_000300: 1.371e1

DP
type: SiteQuality
SIO_000300: 1.219267e6

MQ
type: SiteQuality
SIO_000300: 5.925e1

VQSLOD
type: SiteQuality
SIO_000300: 4.37e-1

FS
type: SiteQuality
SIO_000300: 5.819e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.33e-1

GenotypeQuality
all individuals: 2008
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 108
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2224
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8206
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14006
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51198
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.518891687657431e-4
allele num: 7940
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4566
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.371e1

DP
type: SiteQuality
SIO_000300: 1.219267e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.633e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

FS
type: SiteQuality
SIO_000300: 5.819e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.33e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9952
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4636
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.503128911138924e-4
allele num: 7990
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.112375533428166e-5
allele num: 14060
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8276
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51858
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

FS
type: SiteQuality
SIO_000300: 7.42e-1

DP
type: SiteQuality
SIO_000300: 1.23107e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.75e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.43e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.244e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.32e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 17

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
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variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.37324910738808e-4
allele num: 14564
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 8.101851851851852e-4
allele num: 8640
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.438745413998993e-4
allele num: 55604
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8312
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5022
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.287458e6

FS
type: SiteQuality
SIO_000300: 3.509e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

QD
type: SiteQuality
SIO_000300: 1.321e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.69e-1

GenotypeQuality
all individuals: 62
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 708
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variant carriers: 0

GenotypeQuality
all individuals: 219
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GenotypeQuality
all individuals: 921
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 537
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GenotypeQuality
all individuals: 782
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.82407533779173e-5
allele num: 14654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5144
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8744
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56530
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.808e0

FS
type: SiteQuality
SIO_000300: 5.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.78e-1

MQ
type: SiteQuality
SIO_000300: 5.811e1

QD
type: SiteQuality
SIO_000300: 1.078e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.69e-1

DP
type: SiteQuality
SIO_000300: 1.298784e6

VQSLOD
type: SiteQuality
SIO_000300: -1.965e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 29
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5234
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14726
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57314
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 6.805807622504537e-4
allele num: 8816
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

FS
type: SiteQuality
SIO_000300: 1.143e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.310872e6

QD
type: SiteQuality
SIO_000300: 1.141e1

MQ
type: SiteQuality
SIO_000300: 5.987e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14742
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.959910913140311e-5
allele num: 57472
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 9.27e-1

FS
type: SiteQuality
SIO_000300: 8.19e-1

QD
type: SiteQuality
SIO_000300: 1.102e1

DP
type: SiteQuality
SIO_000300: 1.313913e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 484
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GenotypeQuality
all individuals: 426
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8424
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8850
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.194445406378779e-5
allele num: 57754
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14784
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.57e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.1138e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

QD
type: SiteQuality
SIO_000300: 1.401e1

DP
type: SiteQuality
SIO_000300: 1.316297e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.46e-1

GenotypeQuality
all individuals: 379
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
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GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2839
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2009
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 301
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5320
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10466
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.186239620403321e-4
allele num: 8430
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58114
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14810
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.64e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.8e-1

DP
type: SiteQuality
SIO_000300: 1.321294e6

VQSLOD
type: SiteQuality
SIO_000300: 4.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

QD
type: SiteQuality
SIO_000300: 1.182e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

GenotypeQuality
all individuals: 874
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 748
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variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.120322652924042e-4
allele num: 8926
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58276
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14824
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.324392e6

QD
type: SiteQuality
SIO_000300: 1.151e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.793e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

MQRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

GenotypeQuality
all individuals: 7566
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
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variant carriers: 0

GenotypeQuality
all individuals: 174
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GenotypeQuality
all individuals: 41295
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variant carriers: 0

GenotypeQuality
all individuals: 16
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GenotypeQuality
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GenotypeQuality
all individuals: 2835
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 424
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 685
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variant carriers: 0

GenotypeQuality
all individuals: 2006
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 662
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.702533369654045e-5
allele num: 58736
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8978
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14888
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

DP
type: SiteQuality
SIO_000300: 1.330326e6

MQRankSum
type: SiteQuality
SIO_000300: -4.93e-1

QD
type: SiteQuality
SIO_000300: 1.794e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.72e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.919e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

FS
type: SiteQuality
SIO_000300: 3.536e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 506
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
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GenotypeQuality
all individuals: 859
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variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 812
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variant carriers: 0

GenotypeQuality
all individuals: 40981
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 423
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 52
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variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2010
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 372
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variant carriers: 0

GenotypeQuality
all individuals: 2814
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14898
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.25e-3
allele num: 800
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.11358574610245e-4
allele num: 8980
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.811293123999591e-5
allele num: 58726
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.93e-1

MQ
type: SiteQuality
SIO_000300: 5.927e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 1.331191e6

FS
type: SiteQuality
SIO_000300: 1.102e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.09e-1

QD
type: SiteQuality
SIO_000300: 1.167e1

GenotypeQuality
all individuals: 2007
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 932
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
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variant carriers: 0

GenotypeQuality
all individuals: 610
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variant carriers: 0

GenotypeQuality
all individuals: 827
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variant carriers: 0

GenotypeQuality
all individuals: 7541
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
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variant carriers: 0

GenotypeQuality
all individuals: 676
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variant carriers: 0

GenotypeQuality
all individuals: 2837
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variant carriers: 0

GenotypeQuality
all individuals: 53
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variant carriers: 0

GenotypeQuality
all individuals: 275
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GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 744
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variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40706
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5436
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14894
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8984
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.502090459901178e-5
allele num: 10524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.700275444622029e-5
allele num: 58814
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.75e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.44e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.38e-1

FS
type: SiteQuality
SIO_000300: 2.07e0

QD
type: SiteQuality
SIO_000300: 8.02e0

DP
type: SiteQuality
SIO_000300: 1.331661e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.586e0

GenotypeQuality
all individuals: 671
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
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variant carriers: 0

GenotypeQuality
all individuals: 20
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GenotypeQuality
all individuals: 622
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GenotypeQuality
all individuals: 113
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variant carriers: 0

GenotypeQuality
all individuals: 169
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GenotypeQuality
all individuals: 137
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GenotypeQuality
all individuals: 58
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GenotypeQuality
all individuals: 651
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variant carriers: 0

GenotypeQuality
all individuals: 424
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GenotypeQuality
all individuals: 792
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variant carriers: 0

GenotypeQuality
all individuals: 750
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GenotypeQuality
all individuals: 274
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GenotypeQuality
all individuals: 875
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variant carriers: 0

GenotypeQuality
all individuals: 727
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GenotypeQuality
all individuals: 41364
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2006
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2890
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9010
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14926
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59050
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.833516685001834e-4
allele num: 5454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10548
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 6.043e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

DP
type: SiteQuality
SIO_000300: 1.335758e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.56e-1

QD
type: SiteQuality
SIO_000300: 8.52e0

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

GenotypeQuality
all individuals: 2868
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
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GenotypeQuality
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GenotypeQuality
all individuals: 7448
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GenotypeQuality
all individuals: 406
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GenotypeQuality
all individuals: 270
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GenotypeQuality
all individuals: 41432
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GenotypeQuality
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GenotypeQuality
all individuals: 319
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GenotypeQuality
all individuals: 673
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GenotypeQuality
all individuals: 132
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GenotypeQuality
all individuals: 634
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GenotypeQuality
all individuals: 54
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GenotypeQuality
all individuals: 98
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GenotypeQuality
all individuals: 882
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GenotypeQuality
all individuals: 740
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2006
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.695232994108195e-5
allele num: 14936
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9028
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59130
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.279999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: -1.218e0

DP
type: SiteQuality
SIO_000300: 1.336717e6

MQRankSum
type: SiteQuality
SIO_000300: -1.27e0

GenotypeQuality
all individuals: 7479
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 732
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GenotypeQuality
all individuals: 424
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GenotypeQuality
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GenotypeQuality
all individuals: 269
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GenotypeQuality
all individuals: 690
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variant carriers: 0

GenotypeQuality
all individuals: 35
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GenotypeQuality
all individuals: 410
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GenotypeQuality
all individuals: 124
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GenotypeQuality
all individuals: 825
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GenotypeQuality
all individuals: 900
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GenotypeQuality
all individuals: 2018
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variant carriers: 14

GenotypeQuality
all individuals: 169
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GenotypeQuality
all individuals: 647
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GenotypeQuality
all individuals: 41279
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variant carriers: 0

GenotypeQuality
all individuals: 729
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GenotypeQuality
all individuals: 663
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9036
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59178
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

South Asian
type: Population
allele count: 15
allele frequency: 1.003478726251003e-3
allele num: 14948
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.96e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.336211e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.466e0

QD
type: SiteQuality
SIO_000300: 1.107e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 40283
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7625
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
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GenotypeQuality
all individuals: 1040
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 912
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2005
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2798
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9046
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.691017316017316e-5
allele num: 59136
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14970
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.925e1

MQRankSum
type: SiteQuality
SIO_000300: -6.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

FS
type: SiteQuality
SIO_000300: 1.569e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.747e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.193e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.503e0

QD
type: SiteQuality
SIO_000300: 5.22e0

DP
type: SiteQuality
SIO_000300: 1.333072e6

GenotypeQuality
all individuals: 129
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2005
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40634
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variant carriers: 0

GenotypeQuality
all individuals: 2793
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.689645850229792e-5
allele num: 59184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9060
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14970
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.554e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.057e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.911e-1

DP
type: SiteQuality
SIO_000300: 1.334385e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.713e0

MQRankSum
type: SiteQuality
SIO_000300: 1.7e0

FS
type: SiteQuality
SIO_000300: 5.115e0

GenotypeQuality
all individuals: 1215
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 870
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8217
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2049
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 545
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2710
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39185
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9040
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.325404376784015e-4
allele num: 8408
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10556
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.706008583690987e-5
allele num: 14912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59022
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

DP
type: SiteQuality
SIO_000300: 1.323867e6

VQSLOD
type: SiteQuality
SIO_000300: 5.24e0

QD
type: SiteQuality
SIO_000300: 1.396e1

GenotypeQuality
all individuals: 268
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39185
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1215
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2710
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8217
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2049
bin: 9.75e1
variant carriers: 39

GenotypeQuality
all individuals: 870
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 7.5e0
variant carriers: 0

European (Finnish)
type: Population
allele count: 10
allele frequency: 1.816860465116279e-3
allele num: 5504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9040
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14912
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 29
allele frequency: 4.913422113788079e-4
allele num: 59022
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10556
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.396e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.24e0

DP
type: SiteQuality
SIO_000300: 1.323867e6

GenotypeQuality
all individuals: 268
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
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variant carriers: 0

GenotypeQuality
all individuals: 687
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GenotypeQuality
all individuals: 419
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variant carriers: 0

GenotypeQuality
all individuals: 17
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GenotypeQuality
all individuals: 941
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variant carriers: 0

GenotypeQuality
all individuals: 1052
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 993
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variant carriers: 0

GenotypeQuality
all individuals: 407
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variant carriers: 0

GenotypeQuality
all individuals: 38709
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variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 622
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variant carriers: 0

GenotypeQuality
all individuals: 8430
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variant carriers: 0

GenotypeQuality
all individuals: 1088
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1307
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2004
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5484
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9024
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.189909566872918e-4
allele num: 8404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14902
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10548
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.32e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 1.318846e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.39e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.28e-1

FS
type: SiteQuality
SIO_000300: 7.025e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.93e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8560
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2004
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1301
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.702823280999898e-5
allele num: 58726
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14852
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9000
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10526
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.58e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.315841e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.289e0

MQRankSum
type: SiteQuality
SIO_000300: 2.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.03e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

QD
type: SiteQuality
SIO_000300: 1.306e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.98e0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 670
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 37860
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58712
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9004
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.726759047490919e-5
allele num: 14866
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5462
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

DP
type: SiteQuality
SIO_000300: 1.312979e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.066e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
all individuals: 660
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 8.75e1
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GenotypeQuality
all individuals: 672
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9510
bin: 2.25e1
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GenotypeQuality
all individuals: 1305
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GenotypeQuality
all individuals: 594
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GenotypeQuality
all individuals: 389
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GenotypeQuality
all individuals: 173
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GenotypeQuality
all individuals: 29
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GenotypeQuality
all individuals: 188
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GenotypeQuality
all individuals: 109
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GenotypeQuality
all individuals: 1067
bin: 4.75e1
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GenotypeQuality
all individuals: 371
bin: 5.75e1
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GenotypeQuality
all individuals: 1560
bin: 3.25e1
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GenotypeQuality
all individuals: 268
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GenotypeQuality
all individuals: 1253
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2513
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14772
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.11731843575419e-4
allele num: 8950
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8274
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58230
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.827e0

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

DP
type: SiteQuality
SIO_000300: 1.300626e6

QD
type: SiteQuality
SIO_000300: 1.348e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

FS
type: SiteQuality
SIO_000300: 7.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-2

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.7842605156038e-5
allele num: 14740
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57772
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5414
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10472
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

MQRankSum
type: SiteQuality
SIO_000300: 9.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 1.288297e6

QD
type: SiteQuality
SIO_000300: 6.69e0

VQSLOD
type: SiteQuality
SIO_000300: -7.871e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.01e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10476
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.787023211619383e-5
allele num: 14734
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8910
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57752
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.288805e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.611e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.914e0

FS
type: SiteQuality
SIO_000300: 5.9e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5396
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.123848055742864e-4
allele num: 8898
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10452
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8182
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14718
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.957e1

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.75e-1

DP
type: SiteQuality
SIO_000300: 1.286414e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.830000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.967e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 9.116e0

QD
type: SiteQuality
SIO_000300: 8.859999999999999e0

GenotypeQuality
all individuals: 2449
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2003
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 762
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5366
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.225790634959549e-4
allele num: 8158
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14680
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

QD
type: SiteQuality
SIO_000300: 1.87e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: -9.729e-1

DP
type: SiteQuality
SIO_000300: 1.280684e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.756e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8854
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.748740906547286e-5
allele num: 57184
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5348
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.276872e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.09e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.13e0

VQSLOD
type: SiteQuality
SIO_000300: 3.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.73e-1

QD
type: SiteQuality
SIO_000300: 9.06e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 4
allele frequency: 5.08646998982706e-4
allele num: 7864
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.072e1

DP
type: SiteQuality
SIO_000300: 1.239493e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.662e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14370
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.81113485710146e-5
allele num: 55214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7820
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5182
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.19e-1

ClippingRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: 2.98e-1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
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SIO_000300: 1.236939e6

FS
type: SiteQuality
SIO_000300: 1.281e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.071e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1687
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13229
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2143
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.27942681678608e-4
allele num: 7816
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.814552712756305e-5
allele num: 55110
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14346
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.23534e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.78e-1

QD
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.338e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

MQ
type: SiteQuality
SIO_000300: 5.656e1

GenotypeQuality
all individuals: 367
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2007
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 14173
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30551
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1491
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2100
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1198
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1923
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1136
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10120
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7730
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.808988764044944e-4
allele num: 14240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.679175864606328e-5
allele num: 54360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5110
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

DP
type: SiteQuality
SIO_000300: 1.220138e6

MQRankSum
type: SiteQuality
SIO_000300: -2.26e-1

FS
type: SiteQuality
SIO_000300: 1.903e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

QD
type: SiteQuality
SIO_000300: 1.08e1

VQSLOD
type: SiteQuality
SIO_000300: 9.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.944e0

GenotypeQuality
all individuals: 2010
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1801
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1893
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1121
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1379
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30123
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4990
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10020
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.084159818645509e-5
allele num: 14116
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.869e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

DP
type: SiteQuality
SIO_000300: 1.203013e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e0

FS
type: SiteQuality
SIO_000300: 1.092e0

VQSLOD
type: SiteQuality
SIO_000300: -3.578e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.856e0

QD
type: SiteQuality
SIO_000300: 1.367e1

GenotypeQuality
all individuals: 444
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15367
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 79
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1364
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1982
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2003
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1238
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1889
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1809
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1103
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29892
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53280
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9986
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8352
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.637826431020839e-4
allele num: 7582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4968
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14098
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.312e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.8e-1